Advice please.

[Mostew]

Hi all ,

Does anyone know if it’s useful to be tested every so often for allele Burden and are there any other checks Dr. Should be doing apart from ordinary blood counts ?

I have JAK 2 positive .

Any advice on good questions to ask would be most welcome

Thanks

[MPort]

Hi,

I asked that question at my last appointment in November. It was agreed to put that test into the blood test for my next appointment in March. This is now July and may be postponed again. I was hoping for a 'percentage' allele burden. I did a Google search and there are many research papers and info on line. Patient Power gave the following info:

So, what a low variant allele frequency means that the proportion of mutant alleles in that sample of your blood is low.So, low would be maybe 10 percent or 5 percent or something like that and what is the significance of that? It’s an area a little bit of some debate, but there’s certainly a number of studies that have shown a correlation between the variant allele frequency in blood and the disease type itself. So, for instance, essential thrombocythemia, or ET, generally, has a lower bearing allele frequency than myelofibrosis for the same mutation. And polycythemia vera is often in between.

Mairead

[Mostew in reply to MPort]

Thank you so much for response .

Hope you get test soon . At least your dr has agreed to it . I asked yesterday but she said no point and refused .

I’ll do some reading . And then Send her info .

Hope you are doing ok x

[azaelea in reply to Mostew]

I asked my Haemo late last year and she said-no point! It would be helpful to know I would have thought. Might ask again when we get to see them again.

[hunter5582]

Just asked my MPN Specialist that question re. Repeating the mutant allele quantitative analyses. He said he would repeat if there was a change in the disease state. Otherwise there is no need. So for sure get one initially if you do not already have that info. Be sure to know which technique is used as there apparently are some differences.

[Mostew in reply to hunter5582]

Thanks for info. Glad you had one done . My specialist not willing to do it at all .

[hunter5582 in reply to Mostew]

Is your specialist an MPN-Expert or just a regular hematologist? I have never heard of a knowledgeable doc refusing to do a mutant allele quantitative analysis. Suggest you get another opinion with a doc who is recognized for MPN expertise. Here is a list mpnforum.com/list-hem./ .

[Mostew in reply to hunter5582]

Thank you so much for good advice. I assume they arnt MPN specialists as Norwich U.K. not on that list . I wonder if I can ask to see someone in London as that would be nearest .

I would think it must be useful to have the info the test would give .

[Bield]

I’m sorry I’m no help here, I have no idea what test you or I should be asking for. Cholesterol check is the only one I’ve ever asked for because it’s the only one I know about. Feel it’s something that Dr should keep on top of but never have. In 5years never even had my blood pressure taken, do that myself. Do you know what that test is for, there is so little known about this disease and staff are not very forthcoming with information.

[Mostew in reply to Bield]

Thanks for response

I find same as you with Dr.s .thats why I want keep up with what would be good to ask about , as they seem to only ask for symptoms then offer meds .

I have read but not really digested meaning of test !!

Anyone able to put in simple language ???

Warm wishes to you and everyone

[3195]

At this time, they have not determined the significance of allele burden.

[Mostew in reply to 3195]

Thanks for response.

Yes the Dr said that it’s being done for research . ....

[jointpain]

We asked my wife's hematologist last year as she had it done in France when first diagnosed. He said only hospitals associated with research universities such as London and Manchester would do it. And we live in Wales. So no funding here for it.

[Mostew in reply to jointpain]

Thanks . That makes sense . Just like to know if I’m getting correct info or being ‘fobbed off’ !!